A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1123192



Internal ID18926795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:53990722..54001652hg38UCSC Ensembl
Outerchr6:53855520..53866450hg19UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg3810931
hg1910931
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3316n106
Supporting Variantsnssv3972188
SamplesKWS1
Known GenesMLIP-IT1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1123192
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer